{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T03:44:13Z","timestamp":1765338253669,"version":"3.46.0"},"reference-count":53,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["5\/10\/FR\/10\/2015-RCH"],"award-info":[{"award-number":["5\/10\/FR\/10\/2015-RCH"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","ejog.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Obstetrics &amp; Gynecology and Reproductive Biology"],"published-print":{"date-parts":[[2025,12]]},"DOI":"10.1016\/j.ejogrb.2025.114762","type":"journal-article","created":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T15:38:19Z","timestamp":1759937899000},"page":"114762","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Novel genetic variants of sperm chromatin compaction regulators are associated with non-obstructive azoospermia in Indian men"],"prefix":"10.1016","volume":"315","author":[{"given":"Saurav","family":"Dutta","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pranab","family":"Paladhi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samudra","family":"Pal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Papiya","family":"Ghosh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ratna","family":"Chattopadhyay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1703-8446","authenticated-orcid":false,"given":"Sujay","family":"Ghosh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejogrb.2025.114762_b0005","unstructured":"Infertility prevalence estimates, 1990\u20132021. Geneva: World Health Organization; 2023."},{"key":"10.1016\/j.ejogrb.2025.114762_b0010","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.fertnstert.2009.10.045","article-title":"The genetic causes of male factor infertility: a review","volume":"93","author":"O\u2019Flynn O\u2019Brien","year":"2010","journal-title":"Fertil Steril"},{"key":"10.1016\/j.ejogrb.2025.114762_b0015","doi-asserted-by":"crossref","DOI":"10.1111\/and.13595","article-title":"Do lifestyle practices impede male fertility?","volume":"53","author":"Leisegang","year":"2021","journal-title":"Andrologia"},{"key":"10.1016\/j.ejogrb.2025.114762_b0020","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/s41585-018-0003-3","article-title":"Genetics of male infertility","volume":"15","author":"Krausz","year":"2018","journal-title":"Nat Rev Urol"},{"key":"10.1016\/j.ejogrb.2025.114762_b0025","first-page":"253","article-title":"Y chromosomal microdeletion screening in the workup of male infertility and its current status in India","volume":"7","author":"Suganthi","year":"2014","journal-title":"Int J Fertil Steril"},{"key":"10.1016\/j.ejogrb.2025.114762_b0030","first-page":"315","article-title":"Human protamines and the developing spermatid: their structure, function, expression and relationship with male infertility","volume":"5","author":"Aoki","year":"2003","journal-title":"Asian J Androl"},{"key":"10.1016\/j.ejogrb.2025.114762_b0035","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1093\/humupd\/dml057","article-title":"Altered protamine expression and diminished spermatogenesis: what is the link?","volume":"13","author":"Carrell","year":"2007","journal-title":"Hum Reprod Update"},{"key":"10.1016\/j.ejogrb.2025.114762_b0040","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1007\/978-1-4614-7783-9_6","article-title":"Protamine alterations in human spermatozoa","volume":"791","author":"Jodar","year":"2014","journal-title":"Adv Exp Med Biol"},{"key":"10.1016\/j.ejogrb.2025.114762_b0045","doi-asserted-by":"crossref","DOI":"10.1111\/and.12990","article-title":"Systematic review and meta-analysis of the genetic association between protamine polymorphism and male infertility","volume":"50","author":"Jiang","year":"2018","journal-title":"Andrologia"},{"key":"10.1016\/j.ejogrb.2025.114762_b0050","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1093\/molehr\/gap056","article-title":"Mutations in the protamine locus: association with spermatogenic failure?","volume":"15","author":"Imken","year":"2009","journal-title":"Mol Hum Reprod"},{"key":"10.1016\/j.ejogrb.2025.114762_b0055","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1038\/ng0501-82","article-title":"Haploinsufficiency of protamine-1 or -2 causes infertility in mice","volume":"28","author":"Cho","year":"2001","journal-title":"Nat Genet"},{"key":"10.1016\/j.ejogrb.2025.114762_b0060","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1095\/biolreprod.102.015115","article-title":"Protamine 2 deficiency leads to sperm DNA damage and embryo death in mice","volume":"69","author":"Cho","year":"2003","journal-title":"Biol Reprod"},{"key":"10.1016\/j.ejogrb.2025.114762_b0065","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1007\/s00018-004-4394-y","article-title":"Gene expression in spermiogenesis","volume":"62","author":"Tanaka","year":"2005","journal-title":"Cell Mol Life Sci"},{"key":"10.1016\/j.ejogrb.2025.114762_b0070","doi-asserted-by":"crossref","first-page":"7243","DOI":"10.1128\/MCB.21.21.7243-7255.2001","article-title":"Targeted disruption of the transition protein 2 gene affects sperm chromatin structure and reduces fertility in mice","volume":"21","author":"Zhao","year":"2001","journal-title":"Mol Cell Biol"},{"key":"10.1016\/j.ejogrb.2025.114762_b0075","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1002\/gene.20019","article-title":"Transition nuclear proteins are required for normal chromatin condensation and functional sperm development","volume":"38","author":"Zhao","year":"2004","journal-title":"Genesis"},{"key":"10.1016\/j.ejogrb.2025.114762_b0080","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1093\/molehr\/7.6.513","article-title":"Teratozoospermia in mice lacking the transition protein 2 (Tnp2)","volume":"7","author":"Adham","year":"2001","journal-title":"Mol Hum Reprod"},{"key":"10.1016\/j.ejogrb.2025.114762_b0085","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1093\/molehr\/gag010","article-title":"Single nucleotide polymorphisms in the protamine-1 and -2 genes of fertile and infertile human male populations","volume":"9","author":"Tanaka","year":"2003","journal-title":"Mol Hum Reprod"},{"key":"10.1016\/j.ejogrb.2025.114762_b0090","doi-asserted-by":"crossref","first-page":"779","DOI":"10.2164\/jandrol.05069","article-title":"Single-nucleotide polymorphisms and mutation analyses of the TNP1 and TNP2 genes of fertile and infertile human male populations","volume":"26","author":"Miyagawa","year":"2005","journal-title":"J Androl"},{"key":"10.1016\/j.ejogrb.2025.114762_b0095","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1136\/jmg.2005.037168","article-title":"An SNP in protamine 1: a possible genetic cause of male infertility?","volume":"43","author":"Iguchi","year":"2006","journal-title":"J Med Genet"},{"key":"10.1016\/j.ejogrb.2025.114762_b0100","first-page":"173","article-title":"Gene polymorphism, microdeletion, and gene expression of PRM1, PRM2, azfc in infertile males","volume":"12","author":"Jabbar Kadhim","year":"2023","journal-title":"Rep Biochem Mol Biol"},{"key":"10.1016\/j.ejogrb.2025.114762_b0105","doi-asserted-by":"crossref","first-page":"124","DOI":"10.3109\/19396368.2011.562960","article-title":"Analysis of sperm nuclear protein gene polymorphisms and DNA integrity in infertile men","volume":"57","author":"Venkatesh","year":"2011","journal-title":"Syst Biol Reprod Med"},{"key":"10.1016\/j.ejogrb.2025.114762_b0110","unstructured":"WHO laboratory manual for the examination and processing of human semen, 6th edition. Geneva: World Health Organization; 2021."},{"key":"10.1016\/j.ejogrb.2025.114762_b0115","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1111\/j.2047-2927.2013.00173.x","article-title":"European Academy of Andrology, European Molecular Genetics Quality Network. EAA\/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013","volume":"2","author":"Krausz","year":"2014","journal-title":"Andrology"},{"key":"10.1016\/j.ejogrb.2025.114762_b0120","doi-asserted-by":"crossref","first-page":"e1769","DOI":"10.1002\/mgg3.1769","article-title":"Prevalence of Y chromosome microdeletion in azoospermia factor subregions among infertile men from West Bengal","volume":"9","author":"Dutta","year":"2021","journal-title":"India Mol Genet Genomic Med"},{"key":"10.1016\/j.ejogrb.2025.114762_b0125","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat Methods"},{"key":"10.1016\/j.ejogrb.2025.114762_b0130","doi-asserted-by":"crossref","first-page":"W106","DOI":"10.1093\/nar\/gkz327","article-title":"RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants","volume":"47","author":"Schwarz","year":"2019","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.ejogrb.2025.114762_b0135","doi-asserted-by":"crossref","DOI":"10.1002\/0471142905.hg0720s76","article-title":"Predicting functional effect of human missense mutations using PolyPhen-2","author":"Adzhubei","year":"2013","journal-title":"Curr Protoc Hum Genet"},{"key":"10.1016\/j.ejogrb.2025.114762_b0140","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res"},{"issue":"Suppl 3","key":"10.1016\/j.ejogrb.2025.114762_b0145","doi-asserted-by":"crossref","first-page":"S2","DOI":"10.1186\/1471-2164-14-S3-S2","article-title":"Collective judgment predicts disease-associated single nucleotide variants","volume":"14","author":"Capriotti","year":"2013","journal-title":"BMC Genomics"},{"key":"10.1016\/j.ejogrb.2025.114762_b0150","doi-asserted-by":"crossref","first-page":"D877","DOI":"10.1093\/nar\/gkv1340","article-title":"HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease","volume":"44","author":"Ward","year":"2016","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.ejogrb.2025.114762_b0155","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1093\/nar\/gkp215","article-title":"Human Splicing Finder: an online bioinformatics tool to predict splicing signals","volume":"37","author":"Desmet","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.ejogrb.2025.114762_b0160","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.ejogrb.2025.114762_b0165","doi-asserted-by":"crossref","first-page":"15300","DOI":"10.1038\/srep15300","article-title":"Polymorphisms in Protamine 1 and Protamine 2 predict the risk of male infertility: a meta-analysis","volume":"5","author":"Jiang","year":"2015","journal-title":"Sci Rep"},{"key":"10.1016\/j.ejogrb.2025.114762_b0170","doi-asserted-by":"crossref","first-page":"29","DOI":"10.2147\/IJGM.S241099","article-title":"Some of the factors involved in male infertility: a prospective review","volume":"13","author":"Babakhanzadeh","year":"2020","journal-title":"Int J Gen Med"},{"key":"10.1016\/j.ejogrb.2025.114762_b0175","doi-asserted-by":"crossref","first-page":"17228","DOI":"10.1038\/s41598-020-74233-3","article-title":"Evaluation of the association between polymorphisms of PRM1 and PRM2 and the risk of male infertility: a systematic review, meta-analysis, and meta-regression","volume":"10","author":"Nemati","year":"2020","journal-title":"Sci Rep"},{"key":"10.1016\/j.ejogrb.2025.114762_b0180","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1111\/j.1745-7262.2007.00290.x","article-title":"AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men","volume":"9","author":"Imken","year":"2007","journal-title":"Asian J Androl"},{"key":"10.1016\/j.ejogrb.2025.114762_b0185","doi-asserted-by":"crossref","first-page":"1416","DOI":"10.1016\/j.fertnstert.2006.04.033","article-title":"Identification of novel polymorphisms in the nuclear protein genes and their relationship with human sperm protamine deficiency and severe male infertility","volume":"86","author":"Aoki","year":"2006","journal-title":"Fertil Steril"},{"key":"10.1016\/j.ejogrb.2025.114762_b0190","doi-asserted-by":"crossref","first-page":"e240","DOI":"10.1111\/j.1365-2605.2009.01003.x","article-title":"A common haplotype of protamine 1 and 2 genes is associated with higher sperm counts","volume":"33","author":"T\u00fcttelmann","year":"2010","journal-title":"Int J Androl"},{"key":"10.1016\/j.ejogrb.2025.114762_b0195","doi-asserted-by":"crossref","first-page":"315","DOI":"10.5152\/tud.2022.22032","article-title":"Correlation of single nucleotide polymorphisms of PRM1, PRM2, PYGO2, and DAZL genes with male infertility in North West of Iran","volume":"48","author":"Ghadirkhomi","year":"2022","journal-title":"Turk J Urol"},{"key":"10.1016\/j.ejogrb.2025.114762_b0200","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1093\/molehr\/gam031","article-title":"Mutations in the protamine 1 gene associated with male infertility","volume":"13","author":"Ravel","year":"2007","journal-title":"Mol Hum Reprod"},{"key":"10.1016\/j.ejogrb.2025.114762_b0205","doi-asserted-by":"crossref","first-page":"540","DOI":"10.2164\/jandrol.107.004390","article-title":"A common protamine 1 promoter polymorphism (-190 C->A) correlates with abnormal sperm morphology and increased protamine P1\/P2 ratio in infertile patients","volume":"29","author":"G\u00e1zquez","year":"2008","journal-title":"J Androl"},{"key":"10.1016\/j.ejogrb.2025.114762_b0210","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1111\/j.1365-2605.2010.01115.x","article-title":"Polymorphisms, haplotypes and mutations in the protamine 1 and 2 genes","volume":"34","author":"Jodar","year":"2011","journal-title":"Int J Androl"},{"key":"10.1016\/j.ejogrb.2025.114762_b0215","first-page":"882","article-title":"Protamine-1 and -2 polymorphisms and gene expression in male infertility: an Italian study","volume":"35","author":"Grassetti","year":"2012","journal-title":"J Endocrinol Invest"},{"key":"10.1016\/j.ejogrb.2025.114762_b0220","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1007\/s11033-016-4017-8","article-title":"The c.-190 C>A transversion in promoter region of protamine1 gene as a genetic risk factor for idiopathic oligozoospermia","volume":"43","author":"Jamali","year":"2016","journal-title":"Mol Biol Rep"},{"key":"10.1016\/j.ejogrb.2025.114762_b0225","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1093\/nar\/gkl919","article-title":"Systematic variation in mRNA 3\u2019-processing signals during mouse spermatogenesis","volume":"35","author":"Liu","year":"2007","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.ejogrb.2025.114762_b0230","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1007\/s00412-002-0227-z","article-title":"Roles of transition nuclear proteins in spermiogenesis","volume":"111","author":"Meistrich","year":"2003","journal-title":"Chromosoma"},{"key":"10.1016\/j.ejogrb.2025.114762_b0235","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1111\/j.1365-2605.2010.01072.x","article-title":"The TNP1 haplotype - GCG is associated with azoospermia","volume":"34","author":"Khattri","year":"2011","journal-title":"Int J Androl"},{"key":"10.1016\/j.ejogrb.2025.114762_b0240","doi-asserted-by":"crossref","first-page":"2313","DOI":"10.1093\/oxfordjournals.humrep.a138444","article-title":"Disturbances of nuclear condensation in human spermatozoa: search for mutations in the genes for protamine 1, protamine 2 and transition protein 1","volume":"9","author":"Schlicker","year":"1994","journal-title":"Hum Reprod"},{"key":"10.1016\/j.ejogrb.2025.114762_b0245","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1111\/j.1432-0436.1989.tb00597.x","article-title":"Nucleotide sequences and expression of cDNA clones for boar and bull transition protein 1 and its evolutionary conservation in mammals","volume":"40","author":"Kremling","year":"1989","journal-title":"Differentiation"},{"key":"10.1016\/j.ejogrb.2025.114762_b0250","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1095\/biolreprod48.3.522","article-title":"Immunohistochemical localization of spermatid nuclear transition protein 2 in the testes of rats and mice","volume":"48","author":"Alfonso","year":"1993","journal-title":"Biol Reprod"},{"key":"10.1016\/j.ejogrb.2025.114762_b0255","doi-asserted-by":"crossref","first-page":"2498","DOI":"10.1101\/gr.1239303","article-title":"Cytoscape: a software environment for integrated models of biomolecular interaction networks","volume":"13","author":"Shannon","year":"2003","journal-title":"Genome Res"},{"key":"10.1016\/j.ejogrb.2025.114762_b0260","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1002\/j.1939-4640.2003.tb02692.x","article-title":"Marked differences in protamine content and P1\/P2 ratios in sperm cells from percoll fractions between patients and controls","volume":"24","author":"Mengual","year":"2003","journal-title":"J Androl"},{"key":"10.1016\/j.ejogrb.2025.114762_b0265","doi-asserted-by":"crossref","first-page":"2029","DOI":"10.1095\/biolreprod.103.020594","article-title":"Ability of hamster spermatozoa to digest their own DNA","volume":"69","author":"Sotolongo","year":"2003","journal-title":"Biol Reprod"}],"container-title":["European Journal of Obstetrics &amp; Gynecology and Reproductive Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0301211525010383?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0301211525010383?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T03:39:17Z","timestamp":1765337957000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0301211525010383"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":53,"alternative-id":["S0301211525010383"],"URL":"https:\/\/doi.org\/10.1016\/j.ejogrb.2025.114762","relation":{},"ISSN":["0301-2115"],"issn-type":[{"type":"print","value":"0301-2115"}],"subject":[],"published":{"date-parts":[[2025,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel genetic variants of sperm chromatin compaction regulators are associated with non-obstructive azoospermia in Indian men","name":"articletitle","label":"Article Title"},{"value":"European Journal of Obstetrics & Gynecology and Reproductive Biology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejogrb.2025.114762","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"114762"}}